Rapidly Progressive Paraplegia in an 11-Year-Old Girl: A Case of Spinal Cord Infarction and Expected Imaging Findings [0.03%]
11岁女孩急性脊髓梗死致截瘫的影像表现
Bryan J Neth,Angela L Hewitt,Wendy S Edlund et al.
Bryan J Neth et al.
Rapidly progressive non-traumatic paraplegia in a child is uncommonly encountered in clinical practice, but is an important presentation to consider given the potential for significant morbidity. We present the case of an 11-year-old girl w...
Interleukin-6 Blockade With Tocilizumab in Anakinra-Refractory Febrile Infection-Related Epilepsy Syndrome (FIRES) [0.03%]
托珠单抗阻断 interleukin-6 治疗 Anakinra 难治性发热感染相关癫痫综合征(FIRES)
Coral M Stredny,Siobhan Case,Arnold J Sansevere et al.
Coral M Stredny et al.
Febrile infection-related epilepsy syndrome (FIRES) is characterized by new onset refractory status epilepticus in a previously healthy child that is associated with poor cognitive outcomes and chronic epilepsy. Innate immune system dysfunc...
The Impact of Pediatric Basal Ganglia Stroke on Mental Health in Children: Report of 2 Cases [0.03%]
儿童基底节脑卒中对患儿心理健康影响的两例报道
Sidrah A Badar,Rupa Radhakrishnan,Meredith R Golomb
Sidrah A Badar
Background: The impact of basal ganglia stroke on mental health is better described in adults than in children. We report 2 children with significant mental health issues after basal ganglia stroke. ...
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Presenting as Recurrent and Migrating Focal Cortical Encephalitis [0.03%]
中枢神经系统髓鞘少突胶质细胞糖蛋白抗体相关疾病表现为复发性和迁移性局灶性皮层脑炎
Xinran Maria Xiang,Rachel Evans,Jesus Lovera et al.
Xinran Maria Xiang et al.
Although pediatric myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease is increasingly well-recognized, its full clinical spectrum is still being defined. Cortical encephalitis is emerging as a distinct clinico-radiologic ...
Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid [0.03%]
两名服用=valproate=后出现氨血症并首次发现谷氨酰胺合成酶（GLUL）新突变的兄弟姐妹使用卡左糖酸治疗
Jennifer Bennett,Christy Gilkes,Karin Klassen et al.
Jennifer Bennett et al.
This case report describes 2 siblings with myoclonic epilepsy who had novel mutations in the glutamine synthetase (GLUL) gene: c.316C>T, p.(Arg106*) and c.42G>C, p.(Lys14Asn). Valproic acid improved seizure control, but was associated with ...
Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report [0.03%]
关于PURA相关表型的扩展及新型PURA变异体的发现：病例报告
Nicole J Boczek,Erica L Macke,Jennifer Kemppainen et al.
Nicole J Boczek et al.
Variants in PURA have recently been associated with an autosomal dominant form of PURA-related neurodevelopmental disorders. Using whole exome sequencing, patients with neurological phenotypes including hypotonia, developmental delay, learn...
Epilepsy and Malaria in Children Aged 1 to 15 Years in Parakou in 2018: Case-Control Study [0.03%]
贝宁帕拉库2018年1至15岁儿童癫痫与疟疾病例对照研究
Adoukonou Thierry,Agbeille Falilatou,Bokossa Covalic et al.
Adoukonou Thierry et al.
Objective: To study the link between malaria and epilepsy in children in Parakou district. Methods: This case-control study included ch...
The Neurocognitive and Behavioral Profiles of 3 Brothers With Becker Muscular Dystrophy [0.03%]
贝克型肌营养不良三位兄弟的神经认知及行为特征分析
Danique M J Hellebrekers,Johan S H Vles,Sylvia Klinkenberg et al.
Danique M J Hellebrekers et al.
Becker muscular dystrophy patients generally carry in-frame mutations in the dystrophin gene, allowing the production of partially functional dystrophin protein. The presence of cognitive and behavioral comorbidities and the relation with t...
Protocol and Feasibility-Randomized Trial of Telehealth Delivery for a Multicomponent Upper Extremity Intervention in Infants With Asymmetric Cerebral Palsy [0.03%]
远程医疗输送上肢多组件治疗方案在偏侧性脑瘫婴儿中应用的可行性-随机试验协议
Lindsay Pietruszewski,Stephanie Burkhardt,Paul J Yoder et al.
Lindsay Pietruszewski et al.
Background: Past work showed that an in-person, therapist-guided, parent-implemented multicomponent intervention increased the motor functioning of the more affected upper extremity (UE) in infants with asymmetric cerebra...
Brain Characteristics Noted Prior to and Following Cranial Orthotic Treatment [0.03%]
颅正畸治疗前后所观察到的脑部特征变化
Michele DeGrazia,Banu Ahtam,Carolyn R Rogers-Vizena et al.
Michele DeGrazia et al.
Objective: This case report aims to assess a potential association between cranial asymmetry, brain deformation, and associated developmental delay. Study...